Full data view for gene TP53

Information The variants shown are described using the NM_000546.5 transcript reference sequence.

688 entries on 7 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.-16132C>A r.(?) p.(=) Unknown - benign g.7606798G>T g.7703480G>T WRAP53(NM_018081.2):c.1641G>T (p.L547=) - EFNB3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-16081A>T r.(?) p.(=) Unknown - likely benign g.7606747T>A - WRAP53(NM_018081.2):c.1590T>A (p.D530E) - EFNB3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-16057C>T r.(?) p.(=) Unknown - likely benign g.7606723G>A g.7703405G>A WRAP53(NM_018081.2):c.1566G>A (p.A522=) - WRAP53_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-16057C>T r.(?) p.(=) Unknown - likely benign g.7606723G>A - WRAP53(NM_018081.2):c.1566G>A (p.A522=) - WRAP53_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-16056G>A r.(?) p.(=) Unknown - likely benign g.7606722C>T g.7703404C>T WRAP53(NM_018081.2):c.1565C>T (p.A522V) - EFNB3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-16056G>C r.(?) p.(=) Unknown - benign g.7606722C>G g.7703404C>G WRAP53(NM_018081.2):c.1565C>G (p.A522G) - WRAP53_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-16056G>C r.(?) p.(=) Unknown - benign g.7606722C>G g.7703404C>G WRAP53(NM_018081.2):c.1565C>G (p.A522G) - WRAP53_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.-16049del r.(?) p.(=) Unknown - pathogenic g.7606721del - WRAP53(NM_018081.2):c.1564delG (p.A522Rfs*26) - EFNB3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-16028G>C r.(?) p.(=) Unknown - likely benign g.7606694C>G g.7703376C>G WRAP53(NM_018081.2):c.1537C>G (p.R513G) - WRAP53_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-16028G>C r.(?) p.(=) Unknown - VUS g.7606694C>G g.7703376C>G WRAP53(NM_018081.2):c.1537C>G (p.R513G) - WRAP53_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-15984A>G r.(?) p.(=) Unknown - likely benign g.7606650T>C g.7703332T>C WRAP53(NM_018081.2):c.1493T>C (p.L498P) - WRAP53_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-15973T>C r.(?) p.(=) Unknown - benign g.7606639A>G g.7703321A>G WRAP53(NM_018081.2):c.1482A>G (p.E494=) - EFNB3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-15938G>A r.(?) p.(=) Unknown - VUS g.7606604C>T g.7703286C>T WRAP53(NM_018081.2):c.1447C>T (p.R483C) - EFNB3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-15691C>T r.(?) p.(=) Unknown - VUS g.7606357G>A g.7703039G>A WRAP53(NM_018081.2):c.1315G>A (p.V439M) - WRAP53_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-15684A>G r.(?) p.(=) Unknown - likely benign g.7606350T>C g.7703032T>C - - WRAP53_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-15453C>T r.(?) p.(=) Unknown - benign g.7606119G>A g.7702801G>A WRAP53(NM_018081.2):c.1223G>A (p.G408D) - EFNB3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-15199G>A r.(?) p.(=) Unknown - likely pathogenic g.7605865C>T g.7702547C>T - - WRAP53_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-14422G>A r.(?) p.(=) Unknown - benign g.7605088C>T g.7701770C>T WRAP53(NM_018081.2):c.936C>T (p.C312=) - WRAP53_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-14422G>A r.(?) p.(=) Unknown - benign g.7605088C>T - WRAP53(NM_018081.2):c.936C>T (p.C312=) - WRAP53_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-14415C>T r.(?) p.(=) Unknown - VUS g.7605081G>A g.7701763G>A WRAP53(NM_018081.2):c.929G>A (p.R310Q) - EFNB3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-14405G>A r.(?) p.(=) Unknown - VUS g.7605071C>T g.7701753C>T WRAP53(NM_018081.2):c.919C>T (p.R307W) - EFNB3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-14405G>A r.(?) p.(=) Unknown - VUS g.7605071C>T - WRAP53(NM_018081.2):c.919C>T (p.R307W) - EFNB3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-14299G>A r.(?) p.(=) Unknown - likely benign g.7604965C>T g.7701647C>T WRAP53(NM_001143990.1):c.823-10C>T (p.(=)), WRAP53(NM_018081.2):c.823-10C>T - WRAP53_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-14299G>A r.(?) p.(=) Unknown - likely benign g.7604965C>T - WRAP53(NM_001143990.1):c.823-10C>T (p.(=)), WRAP53(NM_018081.2):c.823-10C>T - WRAP53_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-14207C>T r.(?) p.(=) Unknown - likely benign g.7604873G>A g.7701555G>A WRAP53(NM_018081.2):c.822+6G>A - EFNB3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-14126G>A r.(?) p.(=) Unknown - likely benign g.7604792C>T g.7701474C>T WRAP53(NM_018081.2):c.747C>T (p.S249=) - EFNB3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-13475G>A r.(?) p.(=) Unknown - VUS g.7604141C>T g.7700823C>T WRAP53(NM_018081.2):c.725C>T (p.T242I) - EFNB3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-13474T>C r.(?) p.(=) Unknown - VUS g.7604140A>G g.7700822A>G WRAP53(NM_018081.2):c.724A>G (p.T242A) - EFNB3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-13470T>C r.(?) p.(=) Unknown - likely benign g.7604136A>G - WRAP53(NM_018081.2):c.720A>G (p.P240=) - EFNB3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-13406C>T r.(?) p.(=) Unknown - VUS g.7604072G>A - WRAP53(NM_018081.2):c.656G>A (p.R219Q) - EFNB3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2263G>A r.(?) p.(=) Unknown - likely benign g.7592929C>T - WRAP53(NM_018081.2):c.552C>T (p.I184=) - TP53_010384 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-1931C>G r.(?) p.(=) Unknown - VUS g.7592597G>C g.7689279G>C WRAP53(NM_018081.2):c.487G>C (p.E163Q) - TP53_010170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-1894G>A r.(?) p.(=) Unknown - benign g.7592560C>T g.7689242C>T - - WRAP53_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-1746G>A r.(?) p.(=) Unknown - likely benign g.7592412C>T g.7689094C>T WRAP53(NM_018081.2):c.431+15C>T - TP53_010169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1695G>T r.(?) p.(=) Unknown - likely benign g.7592361C>A g.7689043C>A WRAP53(NM_018081.2):c.395C>A (p.T132N) - TP53_010168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-1508C>A r.(?) p.(=) Unknown - VUS g.7592174G>T g.7688856G>T WRAP53(NM_018081.2):c.208G>T (p.G70W) - TP53_010192 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-1502G>C r.(?) p.(=) Unknown - benign g.7592168C>G g.7688850C>G - - WRAP53_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-1487C>T r.(?) p.(=) Unknown - likely benign g.7592153G>A g.7688835G>A WRAP53(NM_018081.2):c.187G>A (p.V63M) - WRAP53_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-1331G>A r.(?) p.(=) Unknown - likely benign g.7591997C>T g.7688679C>T - - WRAP53_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. _1_1i c.(?_-202)_(-29+1_-28-1)del r.0? p.0? Unknown - pathogenic g.(7579941_7590694)_(7590868_?)del - c.(?_-17900)_(?_1-1)del - TP53_010145 - PubMed: Fostira 2020 - - Germline - - - 0 - DNA SEQ - gene panel cancer, breast - PubMed: Fostira 2020 - - - Greece - - 0 - - 1 Florentia Fostira
+/+ 1i_6i c.(-29+1_-28-1)_(672+1_673-1)dup r.spl? p.? Unknown kConFab likely pathogenic g.(7577609_7578176)_(7579941_7590694)dup - P53 dup exons 2_6 - TP53_010009 - kConFab variant classification: LGR - - Unknown - 1/1658 - 0 - DNA SEQ - - cancer, breast - - 1 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - 0 - - 1 kConFab - Heather Thorne
-?/. - c.6G>A r.(?) p.(Glu2=) Unknown - likely benign g.7579907C>T g.7676589C>T TP53(NM_000546.5):c.6G>A (p.(=), p.E2=) - TP53_010167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6G>A r.(?) p.(Glu2=) Unknown - likely benign g.7579907C>T - TP53(NM_000546.5):c.6G>A (p.(=), p.E2=) - TP53_010167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.8A>T r.(?) p.(Glu3Val) Parent #1 - NA g.7579905T>A - chr17_7579905_T_A - TP53_010376 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. 2 c.9G>T r.(?) p.(Glu3Asp) Parent #1 - VUS g.7579904C>A g.7676586C>A - - TP53_010123 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/7051 cases breast cancer - 0 - DNA SEQ - - cancer, breast 30287823-cases-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 7051 female breast cancer cases F - Japan - - 0 - - 1 Yukihide Momozawa
?/. 2 c.9G>T r.(?) p.(Glu3Asp) Both (homozygous) - VUS g.7579904C>A g.7676586C>A - - TP53_010123 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/11241 controls - 0 - DNA SEQ - - Healthy/Control 30287823-controls-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 11241 controls F - Japan - - 0 - - 1 Yukihide Momozawa
?/. - c.9G>T r.(?) p.(Glu3Asp) Both (homozygous) - VUS g.7579904C>A g.7676586C>A - - TP53_010123 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/11241 controls - 0 - DNA SEQ - - Healthy/Control -con-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 11241 controls F - Japan - - 0 - - 1 Yukihide Momozawa
?/. - c.9G>T r.(?) p.(Glu3Asp) Parent #1 - VUS g.7579904C>A g.7676586C>A - - TP53_010123 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/12479 controls - 0 - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - 0 - - 1 Yukihide Momozawa
?/. - c.14A>G r.(?) p.(Gln5Arg) Parent #1 - NA g.7579899T>C - chr17_7579899_T_C - TP53_010375 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 2 BRIDGES consortium
?/. - c.14A>G r.(?) p.(Gln5Arg) Parent #1 - NA g.7579899T>C - chr17_7579899_T_C - TP53_010375 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 3/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 3 BRIDGES consortium
?/. - c.23C>A r.(?) p.(Pro8His) Parent #1 - NA g.7579890G>T - chr17_7579890_G_T - TP53_010374 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
-/. 2 c.27C>T r.(?) p.(=) Parent #1 - benign g.7579886G>A g.7676568G>A - - TP53_010122 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs757282628 Germline - 1/7051 cases breast cancer - 0 - DNA SEQ - - cancer, breast 30287823-cases-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 7051 female breast cancer cases F - Japan - - 0 - - 1 Yukihide Momozawa
-/. 2 c.27C>T r.(?) p.(=) Parent #1 - benign g.7579886G>A g.7676568G>A - - TP53_010122 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs757282628 Germline - 3/11241 controls - 0 - DNA SEQ - - Healthy/Control 30287823-controls-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 11241 controls F - Japan - - 0 - - 3 Yukihide Momozawa
-/. - c.27C>T r.(?) p.(=) Parent #1 - benign g.7579886G>A g.7676568G>A - - TP53_010122 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs757282628 Germline - 3/12454 controls - 0 - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - 0 - - 3 Yukihide Momozawa
-?/. - c.27C>T r.(?) p.(Ser9=) Unknown - likely benign g.7579886G>A g.7676568G>A TP53(NM_000546.5):c.27C>T (p.S9=) - TP53_010122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.28G>A r.(?) p.(Val10Ile) Parent #1 - VUS g.7579885C>T g.7676567C>T - - TP53_010121 not in 7051 cases breast cancer PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs535274413 Germline - 1/11241 controls - 0 - DNA SEQ - - Healthy/Control 30287823-controls-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 11241 controls F - Japan - - 0 - - 1 Yukihide Momozawa
?/. - c.28G>A r.(?) p.(Val10Ile) Parent #1 - VUS g.7579885C>T g.7676567C>T - - TP53_010121 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs535274413 Germline - 2/12454 controls - 0 - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - 0 - - 2 Yukihide Momozawa
?/. - c.28G>A r.(?) p.(Val10Ile) Parent #1 - NA g.7579885C>T - chr17_7579885_C_T - TP53_010121 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 2 BRIDGES consortium
?/. - c.28G>A r.(?) p.(Val10Ile) Parent #1 - NA g.7579885C>T - chr17_7579885_C_T - TP53_010121 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
-/. 2 c.31G>C r.(?) p.(Glu11Gln) Parent #1 - benign g.7579882C>G g.7676564C>G - - TP53_010120 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs201382018 Germline - 95/7051 cases breast cancer - 0 - DNA SEQ - - cancer, breast 30287823-cases-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 7051 female breast cancer cases F - Japan - - 0 - - 95 Yukihide Momozawa
-/. 2 c.31G>C r.(?) p.(Glu11Gln) Parent #1 - benign g.7579882C>G g.7676564C>G - - TP53_010120 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs201382018 Germline - 172/11214 controls - 0 - DNA SEQ - - Healthy/Control 30287823-controls-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 11241 controls F - Japan - - 0 - - 172 Yukihide Momozawa
-/. - c.31G>C r.(?) p.(Glu11Gln) Both (homozygous) - benign g.7579882C>G g.7676564C>G - - TP53_010120 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs201382018 Germline - 1/7051 cases breast cancer - 0 - DNA SEQ - - cancer, breast 30287823-cases-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 7051 female breast cancer cases F - Japan - - 0 - - 1 Yukihide Momozawa
-/. - c.31G>C r.(?) p.(Glu11Gln) Parent #1 - benign g.7579882C>G g.7676564C>G - - TP53_010120 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs201382018 Germline - 1/53 cases - 0 - DNA SEQ - - cancer, breast -cases-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 53 male breast cancer cases M - Japan - - 0 - - 1 Yukihide Momozawa
-/. - c.31G>C r.(?) p.(Glu11Gln) Parent #1 - benign g.7579882C>G g.7676564C>G - - TP53_010120 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs201382018 Germline - 184/12451 controls - 0 - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - 0 - - 184 Yukihide Momozawa
?/. - c.31G>C r.(?) p.(Glu11Gln) Parent #1 - NA g.7579882C>G - chr17_7579882_C_G - TP53_010119 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 16/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 16 BRIDGES consortium
?/. - c.31G>C r.(?) p.(Glu11Gln) Parent #1 - NA g.7579882C>G - chr17_7579882_C_G - TP53_010119 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 9/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 9 BRIDGES consortium
+/. - c.69_74+1del r.spl? p.? Unknown - pathogenic g.7579840_7579846del g.7676522_7676528del TP53(NM_000546.5):c.69_74+1delGAAACTG - TP53_010055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.74+11C>A r.(=) p.(=) Unknown - likely benign g.7579828G>T g.7676510G>T - - TP53_010191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.74+38C>G r.(=) p.(=) Unknown - benign g.7579801G>C g.7676483G>C TP53(NM_000546.5):c.74+38C>G - TP53_010063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.74+38C>G r.(=) p.(=) Unknown - benign g.7579801G>C g.7676483G>C TP53(NM_000546.5):c.74+38C>G - TP53_010063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.78del r.(?) p.(Pro27Leufs*17) Parent #1 - NA g.7579719del - chr17_7579717_GA_G - TP53_010373 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.79C>T r.(?) p.(Pro27Ser) Parent #1 - NA g.7579717G>A - chr17_7579717_G_A - TP53_010372 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
+/. - c.80del r.(?) p.(Pro27Leufs*17) Unknown - pathogenic g.7579717del - TP53(NM_000546.5):c.80delC (p.P27Lfs*17) - TP53_010383 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.86A>C r.(?) p.(Asn29Thr) Parent #1 - NA g.7579710T>G - chr17_7579710_T_G - TP53_010371 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
-/. 3 c.90C>T r.(?) p.(=) Parent #1 - benign g.7579882C>G - - - TP53_010119 not in 7051 cases breast cancer Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs370992294 Germline - 1/11241 controls - 0 - DNA SEQ - - Healthy/Control 30287823-controls-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 11241 controls F - Japan - - 0 - - 1 Yukihide Momozawa
-/. 3 c.91G>A r.(?) p.(Val31Ile) Parent #1 - benign g.7579705C>T g.7676387C>T - - TP53_010118 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs201753350 Germline - 91/7051 cases breast cancer - 0 - DNA SEQ - - cancer, breast 30287823-cases-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 7051 female breast cancer cases F - Japan - - 0 - - 91 Yukihide Momozawa
-/. 3 c.91G>A r.(?) p.(Val31Ile) Parent #1 - benign g.7579705C>T g.7676387C>T - - TP53_010118 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs201753350 Germline - 138/11241 controls - 0 - DNA SEQ - - Healthy/Control 30287823-controls-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 11241 controls F - Japan - - 0 - - 138 Yukihide Momozawa
-/. - c.91G>A r.(?) p.(Val31Ile) Both (homozygous) - benign g.7579705C>T g.7676387C>T - - TP53_010118 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs201753350 Germline - 3/7051 cases breast cancer - 0 - DNA SEQ - - cancer, breast 30287823-cases-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 7051 female breast cancer cases F - Japan - - 0 - - 3 Yukihide Momozawa
-/. - c.91G>A r.(?) p.(Val31Ile) Both (homozygous) - benign g.7579705C>T g.7676387C>T - - TP53_010118 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs201753350 Germline - 1/11241 controls - 0 - DNA SEQ - - Healthy/Control -con-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 11241 controls F - Japan - - 0 - - 1 Yukihide Momozawa
-/. - c.91G>A r.(?) p.(Val31Ile) Both (homozygous) - benign g.7579705C>T g.7676387C>T - - TP53_010118 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs201753350 Germline - 1/12490 controls - 0 - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - 0 - - 1 Yukihide Momozawa
-/. - c.91G>A r.(?) p.(Val31Ile) Parent #1 - benign g.7579705C>T g.7676387C>T - - TP53_010118 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs201753350 Germline - 146/12490 controls - 0 - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - 0 - - 146 Yukihide Momozawa
?/. - c.91G>A r.(?) p.(Val31Ile) Parent #1 - NA g.7579705C>T - chr17_7579705_C_T - TP53_010118 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 55/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 55 BRIDGES consortium
?/. - c.91G>A r.(?) p.(Val31Ile) Parent #1 - NA g.7579705C>T - chr17_7579705_C_T - TP53_010118 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 41/53461 controls - 0 - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 41 BRIDGES consortium
+?/. - c.96+1G>A r.spl p.? Unknown - likely pathogenic g.7579699C>T g.7676381C>T - - TP53_010124 - - - - Unknown - - - 0 - DNA SEQ - - ? - - - ? - - - - 0 - - 1 IMGAG
-/. - c.96+41_97-54del r.? p.? Unknown - benign g.7579669_7579684del g.7676351_7676366del TP53(NM_000546.5):c.96+41_97-54delACCTGGAGGGCTGGGG, TP53(NM_001126114.2):c.96+41_97-54delACCTGGAGGGCTGGGG - TP53_010054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.96+41_97-54del r.? p.? Unknown - benign g.7579669_7579684del g.7676351_7676366del TP53(NM_000546.5):c.96+41_97-54delACCTGGAGGGCTGGGG, TP53(NM_001126114.2):c.96+41_97-54delACCTGGAGGGCTGGGG - TP53_010053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.97-52G>A r.(=) p.(=) Unknown - likely benign g.7579642C>T g.7676324C>T TP53(NM_000546.5):c.97-52G>A - TP53_010062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.97-52G>A r.(=) p.(=) Unknown - likely benign g.7579642C>T g.7676324C>T TP53(NM_000546.5):c.97-52G>A - TP53_010062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.97-29C>A r.(=) p.(=) Unknown - benign g.7579619G>T g.7676301G>T TP53(NM_000546.5):c.97-29C>A - TP53_010061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.97-29C>A r.(=) p.(=) Unknown - benign g.7579619G>T g.7676301G>T TP53(NM_000546.5):c.97-29C>A - TP53_010061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.97-29C>A r.(=) p.(=) Unknown - benign g.7579619G>T g.7676301G>T TP53(NM_000546.5):c.97-29C>A - TP53_010061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.97-6C>T r.(=) p.(=) Unknown - benign g.7579596G>A g.7676278G>A TP53(NM_001126114.2):c.97-6C>T - TP53_010052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.99C>T r.(?) p.(Ser33=) Unknown - likely benign g.7579588G>A g.7676270G>A TP53(NM_001126114.2):c.99C>T (p.S33=) - TP53_010051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.108G>A r.(?) p.(Pro36=) Unknown - benign g.7579579C>T g.7676261C>T TP53(NM_000546.5):c.108G>A (p.P36=, p.(=)), TP53(NM_001126114.2):c.108G>A (p.P36=) - TP53_010050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.108G>A r.(?) p.(Pro36=) Unknown - benign g.7579579C>T g.7676261C>T TP53(NM_000546.5):c.108G>A (p.P36=, p.(=)), TP53(NM_001126114.2):c.108G>A (p.P36=) - TP53_010050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.108G>A r.(?) p.(Pro36=) Unknown - benign g.7579579C>T g.7676261C>T TP53(NM_000546.5):c.108G>A (p.P36=, p.(=)), TP53(NM_001126114.2):c.108G>A (p.P36=) - TP53_010050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.108G>A r.(?) p.(Pro36=) Unknown - benign g.7579579C>T g.7676261C>T TP53(NM_000546.5):c.108G>A (p.P36=, p.(=)), TP53(NM_001126114.2):c.108G>A (p.P36=) - TP53_010050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 4 c.108G>A r.(?) p.(=) Parent #1 - benign g.7579579C>T g.7676261C>T - - TP53_010050 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs1800370 Germline - 36/7051 cases breast cancer - 0 - DNA SEQ - - cancer, breast 30287823-cases-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 7051 female breast cancer cases F - Japan - - 0 - - 36 Yukihide Momozawa
-/. 4 c.108G>A r.(?) p.(=) Parent #1 - benign g.7579579C>T g.7676261C>T - - TP53_010050 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs1800370 Germline - 85/11241 controls - 0 - DNA SEQ - - Healthy/Control 30287823-controls-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 11241 controls F - Japan - - 0 - - 85 Yukihide Momozawa
-/. - c.108G>A r.(?) p.(=) Both (homozygous) - benign g.7579579C>T g.7676261C>T - - TP53_010050 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs1800370 Germline - 1/11241 controls - 0 - DNA SEQ - - Healthy/Control -con-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 11241 controls F - Japan - - 0 - - 1 Yukihide Momozawa
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